Associated Papers
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
41147441 (PubMed )
Supplement: KCHL_A_2580177_SM8819.pdf
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
36277779 (PubMed )
Supplement: Data_Sheet_1.pdf
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S10
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome.
Winbo A et al.
Scandinavian Cardiovascular Journal : Scj, 2015
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.
Winbo A et al.
Bmc Cardiovascular Disorders, 2014
Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome.
Winbo A et al.
Cardiology in the Young, 2013
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.
Winbo A et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2012
Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.
Baek JS et al.
Journal of Korean Medical Science, 2010
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
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